Metachromatic leukodystrophy, late infantile form
Synonyms: Arylsulfatase A deficiency, late infantile form · MLD, late infantile form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metachromatic leukodystrophy, late infantile form | Arylsulfatase A deficiency, late infantile form · MLD, late infantile form |
| fr | Leucodystrophie métachromatique infantile tardive | Déficit en arylsulfatase A, forme infantile tardive · MLD, forme infantile tardive |
| de | Leukodystrophie, metachromatische, spät-infantile Form | Arylsulfatase A-Mangel, spät-infantile Form · MLD, spät-infantile Form |
| es | Leucodistrofia metacromática, forma infantil tardía | Deficiencia de arilsulfatasa A, forma infantil tardía · MLD, forma infantil tardía |
| it | Leucodistrofia metacromatica, forma infantile tardiva | Deficit di arilsulfatasi A, forma infantile tardiva · MLD, forma infantile tardiva |
| nl | Metachromatische leukodystrofie, late infantiele vorm | Arylsulfatase A-deficiëntie, late infantiele vorm · MLD, late infantiele vorm |
| pt | Leucodistrofia metacromática, forma da infância tardia | |
| pl | Leukodystrofia metachromatyczna, postać niemowlęca późna | MLD, postać niemowlęca późna · Niedobór arylsulfatazy A, postać niemowlęca późna |
| cs | Metachromatická leukodystrofie, forma pozdně infantilní | Deficit arylsulfatázy A, forma pozdně infantilní · MLD, forma pozdně infantilní |
| uk | Метахроматична лейкодистрофія, пізня інфантильна форма | Дефіцит арилсульфатази А, пізня інфантильна форма · Пізня дитяча форма, пізня інфантильна форма |
| zh | 婴儿晚期型异染性脑白质营养不良 | 婴儿晚期型芳香硫酸酯酶A缺乏 |
| tr | Metakromatik lökodistrofi, geç infantil formu | MLD, geç infantil formu · Arilsülfataz A eksikliği, geç infantil formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250100 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.02 | NTBT | index | validated |
| MONDO | 0017729 | E | validated | |
| UMLS | C0751278 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:512Metachromatic leukodystrophy
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARSA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:713 | ENSG00000100299 | 607574 | 22q13.33 | arylsulfatase A | 20301309[PMID] |
| PSAP | Disease-causing germline mutation(s) in | Assessed | HGNC:9498 | ENSG00000197746 | 176801 | 10q22.1 | prosaposin | 24478108[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET_24001781[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
36 annotations · validated 2018-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002312 | Clumsiness | Diagnostic criterion |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | Diagnostic criterion |
| HP:0001332 | Dystonia | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0002359 | Frequent falls | Diagnostic criterion |
| HP:0002066 | Gait ataxia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002415 | Leukodystrophy | |
| HP:0001324 | Muscle weakness | |
| HP:0000648 | Optic atrophy | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0007133 | Progressive peripheral neuropathy | |
| HP:0030081 | Punctate periventricular T2 hyperintense foci | |
| HP:0001250 | Seizure | |
| HP:0030051 | Tip-toe gait | |
| HP:0000020 | Urinary incontinence | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0012433 | Abnormal social behavior | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0003487 | Babinski sign | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001082 | Cholecystitis | |
| HP:0000746 | Delusion | |
| HP:0000712 | Emotional lability | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000738 | Hallucinations | |
| HP:0002371 | Loss of speech | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0025013 | Decerebrate rigidity | |
| HP:0031358 | Vegetative state | |
Annotation source: 20038527[PMID]_21707604[PMID]_14206875[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309256
- This record as JSON: /data/d/309256.json